Found: 7
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Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1804, doi. 10.1093/brain/awac417
- By:
- Publication type:
- Article
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
- Published in:
- Birth Defects Research, 2023, v. 115, n. 5, p. 563, doi. 10.1002/bdr2.2141
- By:
- Publication type:
- Article
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 10, p. 499, doi. 10.1002/bdr2.2011
- By:
- Publication type:
- Article
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3831, doi. 10.1002/ajmg.a.62426
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- Publication type:
- Article
Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 3, p. 348, doi. 10.1111/cge.13996
- By:
- Publication type:
- Article
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
- Published in:
- Clinical Genetics, 2020, v. 98, n. 6, p. 620, doi. 10.1111/cge.13840
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- Publication type:
- Article